A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16264752



Internal ID20473970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53724190..53724190hg38UCSC Ensembl
chr12:54117974..54117974hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4750422
Supporting Variants
Samples
Known GenesCALCOCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16264752
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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